HsaINT0128614 @ hg38
Intron Retention
Gene
ENSG00000130653 | PNPLA7
Description
patatin like phospholipase domain containing 7 [Source:HGNC Symbol;Acc:HGNC:24768]
Coordinates
chr9:137464126-137464456:-
Coord C1 exon
chr9:137464340-137464456
Coord A exon
chr9:137464196-137464339
Coord C2 exon
chr9:137464126-137464195
Length
144 bp
Sequences
Splice sites
5' ss Seq
GAGGTGCAC
5' ss Score
2.13
3' ss Seq
TGAGCCCCGTCCGCCCGCAGGAC
3' ss Score
9.95
Exon sequences
Seq C1 exon
GGCATGACGTCCTTGATGAAGGCCGCGCTGGACCTCACCTACCCCATCACGTCCATGTTCTCCGGAGCCGGCTTCAACAGCAGCATCTTCAGCGTCTTCAAGGACCAGCAGATCGAG
Seq A exon
GTGCACCCCCACCCTCAGGAGCCCATGCAGCCCCCAGTGCCTGTCCCCTCCTGGCCCCCCACCTCTTGGCCCTGGGTCAGCCTCCCCAGACACAGGACAGGAGCGTGATGGGAGAGGGCCCATCTGAGCCCCGTCCGCCCGCAG
Seq C2 exon
GACCTGTGGATTCCTTATTTCGCCATCACCACCGACATCACAGCCTCGGCCATGCGGGTCCACACCGACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130653:ENST00000406427:27
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0173417=Patatin=FE(22.8=100)
A:
NA
C2:
PF0173417=Patatin=FE(13.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCATGACGTCCTTGATGAAG
R:
GTCGGTGTGGACCCGCAT
Band lengths:
186-330
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development